Hypermanganesemia With Dystonia 2; Hmndyt2

Description

Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypermanganesemia With Dystonia 2; Hmndyt2

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Cognitive impairment
  • Spasticity
  • Flexion contracture
  • Gait disturbance
  • Tremor
  • Cerebellar atrophy
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hypermanganesemia With Dystonia 2; Hmndyt2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SCP2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, KMT2B, MECR, SLC39A14
Specificity
6 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By NBIA Testing Center Oregon Health & Science University in United States.

TRIM32, PANK2, SQSTM1, PLA2G6, KIF1A, FA2H, ATP13A2, WDR45, VPS13A, FUCA1, C19orf12, FTL, CP, COASY, DCAF17, SLC39A14
Specificity
7 %
Genes
100 %
SLC39A14.

By Fulgent Genetics Fulgent Genetics in United States.

SLC39A14
Specificity
100 %
Genes
100 %
SLC39A14-Related Early-Onset Dystonia-Parkinsonism: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

SLC39A14
Specificity
100 %
Genes
100 %


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